A novel TGFßR2 splice variant in patient with aortic aneurysm and family history for aortic dissection: a case report.
Per Med
; 21(3): 139-144, 2024.
Article
em En
| MEDLINE
| ID: mdl-38634413
ABSTRACT
We report the clinical presentation and genetic screening of a 31-year-old man with dilatation of the aortic root and ascending aorta and a positive family history for aortic dissection and sudden death. A novel heterozygous variant in a splice acceptor site (c.1600-1G>T) of TGFßR2 gene was identified by using a targeted multi-gene panel analysis. Bioinformatics tools predicted that the c.1600-1G>T variant is pathogenic by altering acceptor splice site at - 1 position affecting pre-mRNA splicing. These data confirm that the diverging splicing in the TGF-ß pathway genes may be an important process in aneurismal disease and emphasize the utility of genetic sequencing in the identification of high-risk patients for a more patient's management able to improve outcomes and minimize costs for the care of patients with heritable thoracic aortic aneurysm and dissection.
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Base de dados:
MEDLINE
Assunto principal:
Aneurisma da Aorta Torácica
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Receptor do Fator de Crescimento Transformador beta Tipo II
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Dissecção Aórtica
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article